Marfan syndrome is a connective tissue disorder that affects approximately 1 in 5,000 individuals and is an inherited autosomal dominant disease that is caused by mutations in the gene encoding fibrillin-1 (FBN1), an extracellular matrix protein. Marfan Syndrome can manifest in a variety of ways, often affecting one or more of ocular tissue, cardiovascular tissue, and skeletal tissue. Most serious are cardiac effects, which may lead to aortic dilation and dissection, resulting in death without rapid and invasive treatment.
Prior to the present invention, there were no known effective therapies for Marfan Syndrome. Instead, treatment of Marfan sufferers was limited to supportive treatment of symptoms as they develop.